Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

ABSTRACT:

Purpose

To characterize the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe subtype of age-related macular degeneration (AMD), in a subgroup of patients.

Design

Multicenter case series, in vitro experimentation, and retrospective analysis of previously reported variants.

Participants

Seven families with apparently autosomal dominant EOMD.

Methods

Patients underwent a comprehensive ophthalmic assessment. Affected individuals from families A, B, and E underwent whole exome sequencing. The probands from families C, D, F, and G underwent Sanger sequencing analysis of the complement factor H (CFH) gene. Mutant recombinant factor H like-1 (FHL-1) proteins were expressed in HEK293 cells to assess the impact on FHL-1 expressi

SUBMITTER: Taylor RL 

PROVIDER: S-EPMC6856713 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature